Paralogue Annotation for RYR1 residue 4628

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 4628
Reference Amino Acid: M - Methionine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 4628

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
RYR2	A4556T	Ventricular tachycardia, polymorphic	Medium	7	16188589, 24025405, 25637381, 26332594

To assess whether the paralogue annotation here confidently predicts that variation at this residue is pathogenic, it is important to check the reports in the Pubmed links above to ascertain that the mutations in these paralogues have been proved likely to be disease-causing. It is also important to check that the direction of effect of the variant in the paralogue is compatible with your observed phenotype in RYR1.

RYR1	GDVSGAGSGGSSGW-GLGAGEEAEGDEDEN>M<VYYFLEESTGYMEPALRCLSLLHTLVAFLC	4658
RYR2	-LPTRSSSENAK-VTSLDS-----SSHRII>A<VHYVLEESSGYMEPTLRILAILHTVISFFC	4586
RYR3	-DVANLWN-------SFND-----EEEEEA>M<VFFVLQESTGYMAPTLRALAIIHTIISLVC	4491
cons	> <

See full Alignment of Paralogues

Known Variants in RYR1

There are currently no reported variants at residue 4628 for RYR1.